Canonical Allele Identifier: CA405694056

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39077983A>C (hg19) ; chr19:g.38587343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587343A>C , CM000681.2:g.38587343A>C	GRCh38
NC_000019.9:g.39077983A>C , CM000681.1:g.39077983A>C	GRCh37
NC_000019.8:g.43769823A>C	NCBI36
NG_008866.1:g.158644A>C , LRG_766:g.158644A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+767A>C
ENST00000688602.1:c.3373A>C
ENST00000689936.1:c.3345A>C
ENST00000692547.1:n.433A>C
ENST00000359596.8:c.15040A>C MANE Select	ENSP00000352608.2:p.Met5014Leu
ENST00000355481.8:c.15025A>C	ENSP00000347667.3:p.Met5009Leu
ENST00000359596.7:c.15040A>C	ENSP00000352608.2:p.Met5014Leu
ENST00000360985.7:c.15022A>C	ENSP00000354254.4:p.Met5008Leu
NM_000540.2:c.15040A>C , LRG_766t1:c.15040A>C	NP_000531.2:p.Met5014Leu
NM_001042723.1:c.15025A>C	NP_001036188.1:p.Met5009Leu
XM_006723317.1:c.15022A>C	XP_006723380.1:p.Met5008Leu
XM_006723319.1:c.15007A>C	XP_006723382.1:p.Met5003Leu
XM_011527204.1:c.15037A>C	XP_011525506.1:p.Met5013Leu
XM_011527205.1:c.14953A>C	XP_011525507.1:p.Met4985Leu
XM_006723317.2:c.15022A>C	XP_006723380.1:p.Met5008Leu
XM_006723319.2:c.15007A>C	XP_006723382.1:p.Met5003Leu
XM_011527205.2:c.14953A>C	XP_011525507.1:p.Met4985Leu
NM_000540.3:c.15040A>C MANE Select	NP_000531.2:p.Met5014Leu
NM_001042723.2:c.15025A>C	NP_001036188.1:p.Met5009Leu